Canonical Allele Identifier: CA351413061

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707178C>A (hg19) ; chr2:g.241767763C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767763C>A , CM000664.2:g.241767763C>A	GRCh38
NC_000002.11:g.242707178C>A , CM000664.1:g.242707178C>A	GRCh37
NC_000002.10:g.242355851C>A	NCBI36
NG_012012.1:g.38149C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1360C>A MANE Select	ENSP00000315351.4:p.Leu454Met
ENST00000321264.8:c.1360C>A	ENSP00000315351.4:p.Leu454Met
ENST00000400769.6:c.*110C>A	ENSP00000383580.2:n.*110C>A
ENST00000403782.5:c.958C>A	ENSP00000384723.1:p.Leu320Met
ENST00000436747.5:c.*2596C>A	ENSP00000400212.1:n.*2596C>A
ENST00000445308.1:c.756C>A
ENST00000468064.5:n.1250C>A
ENST00000470343.5:n.841C>A
ENST00000473126.1:n.559C>A
ENST00000486953.5:n.1184C>A
ENST00000610344.1:c.*204C>A	ENSP00000481906.1:n.*204C>A
NM_001287249.1:c.958C>A	NP_001274178.1:p.Leu320Met
NM_152783.4:c.1360C>A	NP_689996.4:p.Leu454Met
NR_109778.1:n.1282C>A
XM_011511734.1:c.1480C>A	XP_011510036.1:p.Leu494Met
XM_011511735.1:c.1438C>A	XP_011510037.1:p.Leu480Met
XM_011511736.1:c.1402C>A	XP_011510038.1:p.Leu468Met
XM_011511744.1:c.*92C>A	XP_011510046.1:n.*92C>A
XM_011511750.1:c.*27C>A	XP_011510052.1:n.*27C>A
XM_011511754.1:c.919C>A	XP_011510056.1:p.Leu307Met
XM_011511755.1:c.910C>A	XP_011510057.1:p.Leu304Met
XM_011511756.1:c.907C>A	XP_011510058.1:p.Leu303Met
XR_923004.1:n.1992C>A
XR_923007.1:n.1702C>A
XR_923011.1:n.1803C>A
NM_001352824.1:c.799C>A	NP_001339753.1:p.Leu267Met
XM_011511734.2:c.1480C>A	XP_011510036.1:p.Leu494Met
XM_011511735.2:c.1438C>A	XP_011510037.1:p.Leu480Met
XM_011511736.2:c.1402C>A	XP_011510038.1:p.Leu468Met
XM_011511744.2:c.*92C>A	XP_011510046.1:n.*92C>A
XM_011511750.3:c.*27C>A	XP_011510052.1:n.*27C>A
XM_011511756.2:c.907C>A	XP_011510058.1:p.Leu303Met
XM_024453102.1:c.1252C>A	XP_024308870.1:p.Leu418Met
XR_001738918.2:n.1734C>A
XR_001738919.2:n.1668C>A
XR_923004.3:n.1991C>A
XR_923007.3:n.1701C>A
XR_923011.3:n.1802C>A
NM_152783.5:c.1360C>A MANE Select	NP_689996.4:p.Leu454Met
NM_001287249.2:c.958C>A	NP_001274178.1:p.Leu320Met
NM_001352824.2:c.799C>A	NP_001339753.1:p.Leu267Met
NR_109778.2:n.1231C>A